Canonical Allele Identifier: CA71530638

Gene: TGFBR2

Linked Data

• dbSNP Id: rs753051793
• gnomAD v2: 3-30715440-ATCTGTACCTT-A
• gnomAD v3: 3-30673948-ATCTGTACCTT-A
• gnomAD v4: 3-30673948-ATCTGTACCTT-A
• MyVariant Identifiers: chr3:g.30715441_30715450del (hg19) ; chr3:g.30673949_30673958del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30673954_30673963del , CM000665.2:g.30673954_30673963del	GRCh38
NC_000003.11:g.30715446_30715455del , CM000665.1:g.30715446_30715455del	GRCh37
NC_000003.10:g.30690450_30690459del	NCBI36
NG_007490.1:g.72453_72462del , LRG_779:g.72453_72462del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1255-151_1255-142del MANE Select	ENSP00000295754.5:n.1255-151_1255-142del
ENST00000672866.1:n.2851-151_2851-142del
ENST00000295754.9:c.1255-151_1255-142del	ENSP00000295754.5:n.1255-151_1255-142del
ENST00000359013.4:c.1330-151_1330-142del	ENSP00000351905.4:n.1330-151_1330-142del
NM_001024847.2:c.1330-151_1330-142del , LRG_779t1:c.1330-151_1330-142del	NP_001020018.1:n.1330-151_1330-142del
NM_003242.5:c.1255-151_1255-142del	NP_003233.4:n.1255-151_1255-142del
XM_011534043.1:c.1282-151_1282-142del	XP_011532345.1:n.1282-151_1282-142del
XM_011534044.1:c.1207-151_1207-142del	XP_011532346.1:n.1207-151_1207-142del
XM_011534045.1:c.1150-151_1150-142del	XP_011532347.1:n.1150-151_1150-142del
XM_011534043.2:c.1282-151_1282-142del	XP_011532345.1:n.1282-151_1282-142del
XM_011534045.3:c.1150-151_1150-142del	XP_011532347.1:n.1150-151_1150-142del
XM_017007106.1:c.1150-151_1150-142del	XP_016862595.1:n.1150-151_1150-142del
NM_003242.6:c.1255-151_1255-142del MANE Select	NP_003233.4:n.1255-151_1255-142del